0000000000719048

AUTHOR

Elisa Pinotti

showing 2 related works from this author

Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia

2009

Abstract Cholesteryl ester transfer protein (CETP) is a plasma glycoprotein that catalyses the transfer of cholesteryl esters from HDL to the other plasma lipoproteins. Genetic deficiency of CETP is one of the known causes of elevation of plasma HDL-C (primary hyperalphalipoproteinemia, HALP). We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency. Two unrelated subjects both coming from the same geographical district, were found to be heterozygous for a nucleotide substitution in exon 6 (c.544C>T) and another subject was found to be heterozygous for a C>T transition in exon 9 (c.802C>T). Both mutations introduce a prema…

MaleHyperlipoproteinemiasMessengerDNA Mutational Analysismedicine.disease_causeExonFamilial hyperalphalipoproteinemiaChlorocebus aethiopsCETP activity; CETP gene mutations; Familial hyperalphalipoproteinemia; HDL size; Adolescent; Adult; Aged; Animals; Biomarkers; COS Cells; Cercopithecus aethiops; Cholesterol Ester Transfer Proteins; Cholesterol HDL; DNA Mutational Analysis; European Continental Ancestry Group; Female; Humans; Hyperlipoproteinemias; Italy; Male; Middle Aged; Phenotype; RNA Messenger; Transfection; Up-Regulation; Young Adult; Mutation; Cardiology and Cardiovascular MedicineGeneticsMutationTransition (genetics)biologyCETP activityMiddle AgedUp-RegulationCholesterolPhenotypeItalyCOS CellsRNA splicingFemaleFamilial hyperalphalipoproteinemia; CETP gene mutations; CETP activity; HDL sizelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineAdultHDLAdolescentEuropean Continental Ancestry GroupSocio-culturaleHDL sizeTransfectionWhite PeopleCercopithecus aethiopsYoung AdultCETP gene mutationsCholesterylester transfer proteinmedicineAnimalsHumansRNA MessengerGeneAgedCholesterol HDLIntroncetpCholesterol Ester Transfer Proteinscarbohydrates (lipids)biology.proteinRNAmutationBiomarkersMinigene
researchProduct

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

2012

Objective— Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol <5th percentile). Methods and Results— The combined hypolipidemia cut-offs were chosen according to total cholesterol and HDL-cholesterol levels reported in the ANGPTL3 kindred described to date: total cholesterol levels, <2nd percentile …

MaleSettore MED/09 - Medicina InternaApolipoprotein BGene mutationCompound heterozygositymedicine.disease_causeSeverity of Illness IndexHypobetalipoproteinemiaschemistry.chemical_compoundGene Frequency80 and overPrevalenceMissense mutationgeneticsepidemiology; genetics; hypobetalipoproteinemia; lipoproteins; Adolescent; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Angiopoietins; Apolipoproteins B; Biomarkers; Cholesterol; Cholesterol HDL; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hypobetalipoproteinemias; Italy; Male; Middle Aged; Missouri; Molecular Sequence Data; Phenotype; Prevalence; Severity of Illness Index; Young Adult; Codon Nonsense; Mutation Missense; Cardiology and Cardiovascular MedicineAged 80 and overMutationHomozygotehypobetalipoproteinemiaMiddle AgedCholesterolPhenotypeItalyCodon NonsenseepidemiologyFemaleCardiology and Cardiovascular MedicineHumanAdultmedicine.medical_specialtyHeterozygoteHDLAdolescentMolecular Sequence DataMutation MissenseSocio-culturaleAngiopoietinepidemiology; lipoproteins; genetics; hypobetalipoproteinemiaBiologyYoung AdultInternal medicinemedicineHumansGenetic Predisposition to DiseaseAmino Acid SequenceCodonAllele frequencyAgedAngiopoietin-Like Protein 3Apolipoproteins BMissouriCholesterolCholesterol HDLmedicine.diseaselipoproteinsEndocrinologyAngiopoietin-like ProteinsNonsensechemistryBiological MarkerMutationbiology.proteinHypobetalipoproteinemiaMissenseAngiopoietinsBiomarkersArteriosclerosis, thrombosis, and vascular biology
researchProduct